Documents (100) JSON TSV

source DB	source ID	text	size	updated at	# proj.	updated_at
PubMed	17962394	Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutat	1.3 KB	2015-11-23	13	2021-12-23
PubMed	18235024	Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. PURPOSE	1.74 KB	2015-11-23	11	2021-12-23
PubMed	18408250	A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rh	1.87 KB	2015-11-24	12	2021-12-23
PubMed	18487244	Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a conseq	1.77 KB	2015-11-24	11	2021-12-23
PubMed	19218574	Phosphatidylinositol 3-kinase p85alpha regulatory subunit gene Met326Ile polymorphism in women with	1.83 KB	2015-11-24	11	2021-12-23
PubMed	19353688	Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: e	1.81 KB	2015-11-25	13	2021-12-23
PubMed	19521089	Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's d	978 Bytes	2015-08-06	9	2021-12-23
PubMed	19592582	Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into	1.38 KB	2015-11-25	11	2021-12-23
PubMed	19696792	Single nucleotide polymorphism in ABCG2 is associated with irinotecan-induced severe myelosuppressio	1.3 KB	2015-11-25	9	2021-12-23
PubMed	19728177	Prolonged hypothermia as a bridge to recovery for cerebral edema and intracranial hypertension assoc	1.51 KB	2017-09-04	11	2021-12-23